ClinVar Miner

List of variants reported as likely pathogenic for Dilated cardiomyopathy 1S

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.4823G>A (p.Arg1608His) rs587779391 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1311C>A (p.Asn437Lys) rs1595086845
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr) rs397516106
NM_000257.4(MYH7):c.1423C>A (p.Gln475Lys) rs1566534775
NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe) rs1892789510
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs) rs1566533919
NM_000257.4(MYH7):c.1998T>A (p.His666Gln)
NM_000257.4(MYH7):c.2086A>C (p.Asn696His)
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr) rs1555337916
NM_000257.4(MYH7):c.2171T>A (p.Ile724Asn) rs397516136
NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg) rs1566531303
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.514C>G (p.Gln172Glu) rs2138683978
NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro) rs1114167322
NM_000257.4(MYH7):c.640-2A>T rs2138681961
NM_000257.4(MYH7):c.732+1del rs397516266
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr) rs757922359
NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys) rs1114167331
NM_001267550.2(TTN):c.12438_12448del (p.Ser4147fs) rs1553939749
NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs) rs1114167333
NM_001267550.2(TTN):c.54768del (p.Ser18258fs) rs1114167335
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter) rs1114167324
NM_001267550.2(TTN):c.65035_65036del (p.Ala21679fs) rs1114167323
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695

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